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《Journal of Clinical Otorhinolaryngology》 2006-13
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The prenatal diagnosis and early intervention of nonsyndromic hearing loss of connexin26 gene

HE Chufeng~1 FENG Yong~ 1,2 XIA Kun~2 MEI Lingyun~1 HE Dinghua~1 (~1Department of Otolaryngology, Xiangya Hospital, Central South University, Changsha, 410008,China;~2The State Key Laboratory of Medical Genetics, Central South University)  
Objective:To detect the mutations of gene connexin26 in the pedigrees of nonsyndromic hearing loss, and to make prenatal diagnosis and carry out early intervention to the pedigrees with mutations of gene connexin26.Method:The connexin26 gene of probands in 100 nonsyndromic hearing loss pedigrees was inspected by polymerase chain reaction,single strand conformational polymorphism and direct sequencing to detect the gene mutations. To the pregnant women in pedigrees with confirmed nosogenetic mutations of connexin26 gene, the prenatal diagnosis to the fetus by condocentesis was made and the early intervention was carried out.Result:The homozygous deletion C at position 233~235 of connexin26 cDNA was proved to be a nosogenetic mutation, and G79A、G109A、A341G、G442A、G506A and T608C were proved to be polymorphisms. In the prenatal diagnosis for the second pregnancy of a woman in a pedigree with the homozygous deletion C at position 233~235 of connexin26 cDNA, the same mutation in the fetus' connexin26 gene was found and she was advised to end the pregnancy.Conclusion:The homozygous deletion C at position 233~235 of connexin26 cDNA will induce autosomal recessive nonsyndromic hereditary hearing loss and the heterogeneous mutation will not cause hearing loss. The prenatal diagnosis and early intervention can prevent the birth of deaf children. This is the first time in our country to make prenatal diagnosis and proceed early intervention to the fetus of hereditary hearing loss.
【Fund】: 国家自然科学基金资助项目(No:39980040;30271404;30470954);; 国家973项目(No:2001CB510302);; “十五”国家攻关计划(No:2004BA720A18-02);; 湖南省医药卫生科学技术研究课题(No:2001-Y30)
【CateGory Index】: R764.43
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【Co-references】
Chinese Journal Full-text Database 2 Hits
1 DAI Pu1, HAN Dongyi1, FENG Bo, KANG Dongyang1,LIU Xin1, YUAN Huijun1, CAO Juyang1, ZHANG Xin1, ZHAI Suoqiang1,YANG Weiyan, WU Bailin2 (1 Department Otolaryngology Head and Neck Surgery,Otolaryngol Institute, Genetic Testing Center for Deafness, PLA General Hospital,Beijing,100853,China; 2 Department of Laboratory Medicine and Pathology, Children’s Hospital and Harvard Medical School, Boston, 02115, USA);Genetic testing for the enlarged vestibular aqueduct syndrome and mutation analysis of the SLC26A4 gene[J];Chinese Archives of Otolaryngology-Head and Neck Surgery;2006-05
2 Zhang Suzhen; Zhao Chenjun; Yu Liming(PLA General Hospital, Beijing, 100853);Analysis of sensorineural hearing loss in 77 children[J];JOURNAL OF CLINICAL OTORHINOLARYNGOLOGY;1997-06
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